{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T11:54:28Z","timestamp":1791287668357,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2014,7,10]],"date-time":"2014-07-10T00:00:00Z","timestamp":1404950400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Health Science Research Grant for Research on Applying Health Technology (Jitsuyoka [Nanbyo]-Ippan-014), Ministry of Health, Labour and Welfare, Japan"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Acroscyphodysplasia (OMIM250215) is a distinctive form of metaphyseal dysplasia characterized by the distal femoral and proximal tibial epiphyses embedded in cup\u2010shaped, large metaphyses known as metaphyseal scypho (\u201cscypho\u201d\u2009=\u2009cup) deformity. It is also associated with severe growth retardation and brachydactyly. The underlying molecular mechanism of acroscyphodysplasia has not yet been elucidated, although scypho\u2010deformity of the knee has been reported in three patients with acrodysostosis due to a mutation in the\n                      <jats:italic>PDE4D<\/jats:italic>\n                      gene. We report on the clinical, radiological, and molecular findings of five female patients with acroscyphodysplasia; two were diagnosed as pseudohypoparathyroidism (PHP) or Albright hereditary osteodystropy, and the other three as acrodysostosis. They all had radiological findings consistent with severe metaphyseal scypho\u2010deformity and brachydactyly. Heterozygous mutations were identified in the PHP patients consisting of one novel (p.Q19X) and one recurrent (p.R231C) mutation of the\n                      <jats:italic>GNAS<\/jats:italic>\n                      gene, as well as, in the acrodysostosis patients consisting of two novel mutations (p.T224I and p.I333T) of the\n                      <jats:italic>PDE4D<\/jats:italic>\n                      gene. We conclude that metaphyseal acroscyphodysplasia is a phenotypic variation of PHP or acrodysostosis caused by either a\n                      <jats:italic>GNAS<\/jats:italic>\n                      or\n                      <jats:italic>PDE4D<\/jats:italic>\n                      mutation, respectively. \u00a9 2014 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36669","type":"journal-article","created":{"date-parts":[[2014,7,10]],"date-time":"2014-07-10T13:24:59Z","timestamp":1404998699000},"page":"2529-2534","source":"Crossref","is-referenced-by-count":22,"title":["Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2"],"prefix":"10.1002","volume":"164","author":[{"given":"Toshikatsu","family":"Mitsui","sequence":"first","affiliation":[{"name":"Department of Pediatrics School of Medicine Keio University Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ok\u2010Hwa","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Radiology Gachon University Gil Medical Center Incheon Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine M.","family":"Hall","sequence":"additional","affiliation":[{"name":"Institute of Child Health University of London London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amaka","family":"Offiah","sequence":"additional","affiliation":[{"name":"Academic Unit of Child Health Sheffield Children's Hospital NHS Foundation Trust Sheffield United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Johnson","sequence":"additional","affiliation":[{"name":"Sheffield Clinical Genetics Service Sheffield Children's Hospital NHS Foundation Trust Sheffield United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong\u2010Kyu","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teck\u2010Hock","family":"Toh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Clinical Research Centre Sibu Hospital Sibu Sarawak Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shun","family":"Soneda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics St. Marianna University School of Medicine Kanagawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dai","family":"Keino","sequence":"additional","affiliation":[{"name":"Department of Pediatrics St. Marianna University School of Medicine Kanagawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shohei","family":"Matsubayashi","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Nagasaki Prefectural Center of Medicine and Welfare for Children Nagasaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomohiro","family":"Ishii","sequence":"additional","affiliation":[{"name":"Department of Pediatrics School of Medicine Keio University Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Department of Pediatric Imaging Tokyo Metropolitan Children's Medical Center Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics School of Medicine Keio University Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,7,10]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.10.4630"},{"key":"e_1_2_5_3_1","first-page":"106","article-title":"On a case of peripheral dysostosis","volume":"18","author":"Bellini F","year":"1966","journal-title":"Minerva Pediatr"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.108.3.451"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.5.371"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2005.20.1.158"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(60)80189-8"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02012440"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2000.15.11.2074"},{"key":"e_1_2_5_10_1","unstructured":"HallC NishimuraG KimO\u2010H WilsonL JohnsonD OffiahA.2013. 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